ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.3032T>C (p.Ile1011Thr)

gnomAD frequency: 0.00001  dbSNP: rs760691684
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002535542 SCV003713685 uncertain significance Inborn genetic diseases 2022-05-26 criteria provided, single submitter clinical testing The c.3032T>C (p.I1011T) alteration is located in exon 20 (coding exon 20) of the APOB gene. This alteration results from a T to C substitution at nucleotide position 3032, causing the isoleucine (I) at amino acid position 1011 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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